1 developmental defects Flashcards
1
Q
lateral facial cleft
where
associations (x4)
A
commissure to ear
Treacher Collins, hemifacial microsomia, Nager acrofacial dysostosis, amniotic rupture sequence
2
Q
oblique facial cleft
where
assoc
A
upper lip to eye
can be assoc w CP
3
Q
median cleft of upper lip assoc (x2)
A
oral-facial-digital syndrome and Ellis van Crevelde
4
Q
most minimal CP
A
bifid uvula
5
Q
submucous palatal cleft where
A
muscle only; surface mucosa intact
6
Q
unfused soft palate muscle only; surface mucosa intact
A
submucous palatal cleft
7
Q
pierre robin components (x3) and assoc (x2)
A
CP, mandibular micrognathia, glossoptosis
Stickler and velocardiofacial
8
Q
Stickler and velocardiofacial what in common
A
pierre robin sequence
9
Q
CP, mandibular micrognathia, glossoptosis
A
pierre robin
10
Q
van der woude face look and genetics
A
CP + paramedian lip pits
IRF6 mutation
11
Q
IRF6 mutation
A
van der woude
CP + paramedian lip pits
12
Q
popliteal pterygium syndrome describe
A
CL+/- CP + paramedian lip pits
popliteal pterygia (webbing behind knee)
genital abnormalities
syngnathia (connection upper and lower ajw)
13
Q
popliteal pterygia
A
popliteal pterygium syndrome
webbing behind knee
important bc paramedian lip pits and CL+/- CP
14
Q
syngnathia
A
connection upper and lower jaw
popliteal pterygium syndrome
important bc paramedian lip pits and CL+/- CP
15
Q
Kabuki syndrome describe
A
CL+/-CP eversion of eyelids mental retardation joint laxity skeletal abnormalities large ears hypodontia
paramedian lip pits
16
Q
ascher syndrome components
A
double lip, edema of upper eyelids, non toxic thyroid enlargement
17
Q
oromandibular-limb hypogenesis syndromes components (x3)
A
microglossia, hypodactylia (absence of digits) and hypomelia (hypoplasia of limbs)
18
Q
microglossia, hypodactylia (absence of digits) and hypomelia (hypoplasia of limbs)
A
oromandibular-limb hypogenesis syndromes
19
Q
beckwith wiedemann syndrome components (body and face) and genetics
A
omphalocele visceromegaly visceral tumors gigantism macroglossia
facial: nevus flammeus, earlobe indentations, maxillary hypoplasia
chr 11p15 defect
20
Q
omphalocele visceromegaly visceral tumors gigantism macroglossia
A
nevus flammeus, earlobe indentations, maxillary hypoplasia
21
Q
nevus flammeus, earlobe indentations, maxillary hypoplasia
A
beckwith wiedemann
nevus flammeus also sturge weber
22
Q
11p15 defect
A
beckwith wiedemann
23
Q
melkerson rosenthal components (3)
A
fissured tongue, facial paralysis, lip swelling
24
Q
fissured tongue, facial paralysis, lip swelling
A
melkerson rosenthal synbdrome
25
lines of Zahn
layered zones of plts and RBC in thrombosed varix
26
layered zones of plts and RBC in thrombosed varix
lines of Zahn
27
dystrophic calcification of thrombus
phlebolith
28
condylar hyperplasia ddx from hemifacial hyperplasia
hemifacial hyperplasia has soft tissue involvement
29
congenital condylar hypoplasia assoc (x3)
Treacher Collins
Goldenhar (oculo-auriculo-vertebral syndrome)
hemifacial microsomia
30
4 types of exostoses
buccal, palatal, solitary, reactive subpontine
31
reactive subpontine exostosis where
posterior bridge, alveolar bone
32
extra bone under posterior bridge, alveolar bone
reactive subpontine exostosis
33
eagle syndrome describe
symptomatic elongation of styloid process or calcification of stylohyoid ligament
34
eagle syndrome classically after what
tonsillectomy
35
eagle syndrome dangers
carotid artery syndrome - carotid compressed by process
| traumatic - fracture of calcified ligament
36
symptomatic elongation of styloid process or calcification of stylohyoid ligament
eagle syndrome
37
types of palatal cysts in newborns
epstein pearls - median palate
| bohns nodules - all over palate
38
palatal cysts all over palate
bohns nodules, newborn
39
median palate palatal cysts
epstein pearls, newborn
40
most common non-odontogenic cyst of mouth
nasopalatine duct cyst
41
nasopalatine duct cyst when only in soft tissue
cyst of incisive papilla
42
bohns vs epsteins
bohns all over, epstein midline
all on palate
43
median palatal cyst vs nasopalatine duct cyst
median palatal must show enlargement
| otherwise just posteriorly positioned nasoplataine duct cyst
44
canals of scarpa
foramina within incisive foramen that can carry nasopalatine nerves
45
foramina within incisive foramen that can carry nasopalatine nerves
canals of scarpa
46
organ of jacobson
olfactory organ in some animals
47
epidermal cyst aka
infundibular cyst
48
infundibular cyst
epidermal cyst
49
pilar cyst aka
tricholemmal or isthmus-catagen cyst
50
tricholemmal cyst aja
pilar cyst
51
oral cyst lined w GI epithelium
heterotopic oral gastrointestinal cyst
52
sistrunk procedure
removal of thyroglossal duct cyst w hyoid bone and muscle
53
removal of thyroglossal duct cyst
sistrunk
| with hyoid bone and muscle
54
hemihyperplasia what is and assoc (x6)
risks
asymmetric growth of 1 or more body parts
complex or simplr
```
neurofibromatosis
McCune Albright
Mafucci
segmental odontomaxillary dysplasia
Beckwith-Wiedemann sybdrome
Proteus syndrome
```
increased prevalence of abdominal tumors
55
hemihyperplasia when it's just face
hemifacial hyperplasia
56
atrophy of one side of face -- what is and why
progressive hemifacial atrophy (Parry-Romberg syndrome)
assoc w Lyme (Borrelia infx)
rel to localized scleroderma
57
parry romberg
progressive hemifacial atrophy
| consider Lyme and localized scleroderma
58
becker nevus what is and assoc
hypertrichosis and hyperpigmentation
| segmental odontomaxillary dysplasia
59
Crouzon sybdrome aka and genetics
```
craniofacial dysostosis
FGFR2 mutation (chr 10)
```
60
FGFR2 mutation (chr 10)
crouzon and apert
61
clover leaf skull (kleeblattschadel deformity)
crouzon
62
crouzon skull
clover leaf
| kleeblattschadel deformity)
63
apert syndrome aka and genetics
```
acrocephalosyndactyly
FGFR2 mutation (chr 10)
```
64
treacher collins aka and genetics
mandibulofacial dysostosis
| TCOF1
65
eyelid treacher collins
coloboma
66
syndromic association frequencies for CL+/-CP and CPO
30% of CL+/-CP
50% of CPO
syndromic
67
highest prevalence of orofacial clefts ethnically
asian
68
environmental risks for clefting
mom smiking/drinking, folic acid def, corticoids or antocinvulsants use
69
genes in pierre robin
SOX9/KCNJ2
70
digeorge syndrome
CATCH22 - chr 22 abnormality
```
Cardiac defect
Abnormal facies
Thymic aplasia --> defective cellular immunity
Cleft palate
HypoCaemia/hypoparathyroid
```
71
chr 22 + immunodefcy
DiGeorge - thymic aplasia
72
most common cause of syndromic clefting
van der woude - IRF6
73
everted eyelids, cleft lip, large ears
kabuki
74
irf 6
van der woude and popliteal pterygium apparetnly
75
orofacial digital syndrome describe
bifid tongue, multiple hyperplastic frenula
76
leukoedema locations
cheeks to lips
| vagina, larynx, FOM, palatal pharyngeal
77
white and lacy but disappears when stretched
leukoedema
78
microglossia can locally cooccur with what
hypoplasia of mandible
| lower incisors may be missing
79
microglossia, hypodactylia, hypomelia
oromandibular limb hypogenesis syndromes
80
beckwith wiedemann chromosome
11
81
omphalocele and portwine stain
beckwith wiedemann -- also macroglossia
82
most common location for ectopic thyroid
foramen cecum of tongue -- 90%
83
sex predilection for lingual thyroid
4-7x F
84
considerations for removal of lingual thyroid
for 70% it's their only thyroid tissue
| 30% have hypothyroidism (compensatory?)
85
how to dx lingual thyroid
scan -- avoid bx
| hemorrhage + may be their only thyroid tissue
86
risks of lingual thyroid
removal -- hypothyroidism and bleeding
| by itself --> 1% malignancy, more common in M
87
syndromic fordyce granules
50-90x increase in Lynch syndrome
| hereditary nonpolyposis colorectal cancer dyndrome
88
melkerson rosenthal
fissured tongue, facial paralysis, lip swelling
89
hairy tongue what is and causes
keratin accumulation on filiform papillae
| tobacci, poor OHI, debilitation, abx, radiotx
90
coated tongue vs hairy tongue
accumulation of bacteria and epithelial cells
| 2/o hairlike filiform projections
91
most common varicosity
sublingual varix
92
when are isolated varices commonly noticed and where
lips and buccal mucosa
| typically noticed after thrombosis
93
layered zones of plts and RBCs in thrombosed varix
lines of Zahn
94
lines of Zahn
layered zones of plts and RBC in thrombosed varix
95
caliber persistent artery what happens
main arterial branch extends up w/o reducing diameter
loss of tone
looks like papule on lip, w pulsation
96
lateral soft palate fistula what is, where, when
bilateral on anterior tonsillar pillar
can appear following infection, surgery, or developmental defect
eg absence of tonsil, hearing loss, preauricular fistulas
97
coronoid hyperplasia where, who, manifests
usually bilateral
5x more in M
unilateral -- have to ddzx from osteoma or osteochondroma
mouth opening limitation or deviation of MD (unilateral) -- towards defect bc gets stuck ; opening limitation if bilateral
98
condylar hyperplasia leads to
| ddx from
facial asymmetry, prognathism, open/cross bite
| ddx from hemifacial hyperplasia (soft tissue and teeth involved in latter)
99
congenital condylar hypoplasia when
treacher collins, goldenhar syndrome (oculo-auriculo-vertebral syndrome), hemifacial microsomia
can have complete apasia
100
acuired condylar hypoplasia
usually trauma
| also infx, radiation, arthritis
101
condylar hypoplasia xray
short condylar process, shallow sigmoid notch, small condyle head
102
goldenhar syndrome aka and components
oculo-auriculo-vertebral syndrome
incomplete development of ear, nose, soft palate, lip, mandible
limbal dermoids, preauricular skin tags, strabismus
103
bifid condyle why?
trauma, abnormal mm attachment, teratogenic agents, persistence of fibrous tissue within condylar cartilage
104
4 types of exostoses
buccal (facial MD or MX); palatal tubercle (lingual MX tuberosity); solitary (2/2 irritation, eg graft placement); reactive subpontine (under posterior bridge)
105
extra bone under posterior bridge in alveolar bone
reactive subpontine exostosis
106
palatal tori morphologic classification
flat, spindle, nodular, lobular
107
mandibular tori laterality
90% bilateral
| correlates with bruxism and # of remaining teeth
108
types of eagle syndrome
classic (after tonsilletcomy)
carotid artery/stylohyoid syndome (carotid compressed by process)
traumatic (fracture of calcified ligament)
109
stafne defect most common location
RL in angle of MD below canal between molars
110
cause of stafne
focal concavity of lingual mandible, usually contains sub-MD gland tissue
111
other rare locations for stafne
anterior MD (sublingual gland) and upper ramus (parotid gland)
112
sex for stafne
80-90% M
113
epstein vs bohn
epstein pearls - median palatal raphe - palatal cysts of newborn; from epithelium entrapment when shelves fuse
bohn's nodules -- scattered all over palate; palatal cysts of newborn; epithelial remnants of minor salivary glands
114
nasolabial cyst aka and origin
Klestadt's cyst
| poss nasolacrimal duct?
115
nasolabial cyst look
swelling of upper lip lateral to midline
elevation of nose ala
obliteration of mucolabial fold
116
histo of nasolabial cyst
pseudostratified columnar epithelium, can have cilia amd goblet cells and apocrine lining
117
most common non-odontogenic cyst of mouth
nasopalatine duct cyts -- remnants of nasopalatine duct
118
foramina in incisive foramen - what and what do
canals of scarpa
| carry nasopalatine nerves
119
canals of scarpa
foramina in incisive foramen
| carry nasopalatine nerves
120
preauricular pits 2 assoc
commissural lip pits and lateral soft palate fistulas
121
accessory olfactory organ in some animals name and what related to in OP terms
organ of jacobson
| nasopalatine duct cyst
122
organ of jacobson
accessory olfactory organ in some animals
| related to nasopalatine duct cyst maybe
123
incisive canal vs cyst
if >6mm, consider a cyst (unless other symptoms are present)
124
cyst of incisive papilla
soft tissue nasopalatine duct cyst
125
soft tissue nasopalatine duct cyst
cyst of incisive papilla
126
nasopalatine duct cyst xray
inverted pear between maxillary incisors
127
inverted pear between maxillary incisors on xray
nasopalatine duct syt
128
types of lining and histo features in nasopalatine duct cyst
85% squamous
can be columnar, cuboidal, mixed
+ canal contents (nerves and arteries)
129
diagnostic criteria (x7) for median palatal cyst and why relevant
poss posterioarly positioned nasopalatine duct cyst
criteria: critical enlargement, midline location, posterior to palatine papilla, ovoid or round, teeth are vital, no communication w incisive canal, no nerves, vessels, cartilage, or MSG in walll
130
most common follicular cyst of skin
epidermal (80%)
131
epidermal cyst syndromic
Gardner
132
epidermal inclusion cyst what's up
traumatic implanttion of epithelium
133
epidermal vs pilar cyst
epidermal 80% pilar 15%
| pilar -- no granular layer, compact keratin
134
pilar cyst aka
tricholemmal or isthmus-catagen cyst
135
dermoid cyst is a form of
benign cystic form of teratoma
136
complex teratoma criteria and locations
complex -- all 3 layers
more in ovaries and testes
can be benign or malignant
137
immature teratoma features
immature = malignant
| contains primitive neuroepithelium
138
teratoma with primitive neuroepithelium
immature/malignant
139
oral teratoma aka and location
epignathus
usually congenital
extend through cleft palate from pituitary via rathke's piouch
high mortality 2/2 airway obstruction
140
heterotopic oral gastrointestinal cyst aka and location
aka enterocystoma
oral cyst lined w GI epithelium
most in FOM and tongue
considered choritstoma -- normal tissue in abnormal location
141
dermoid cyst vs epidermoid cyst
dermoid has dermal appendages in wall
142
thyroglossal duct cyst: location, clinical diagnostic aid, age
midline neck
60-80% below hyoid bone (often attached)
vertical movement during swallowing
usually children and young adults
143
removal of thyroglossal duct cyst
sistrunk
| with hyoid bone and muscle
144
risks of thyroglossal duct cyst
1% --> papillary thyroid carcinoma
145
branchial cleft cyst aka, location, most common origin, and ddx
upper lateral neck anterior to SCM
95% from 2nd branchial arch
if older pt, check lining if malignant to rule out cystic metastatic SCC
146
oral lymphoepithelial cyst location and origin
FOM most common
| waldeyer's ring: palatine tonsils, lingual tonsils, pharyngeal adenoids
147
hemihyperplasia aka and what is
hemihypertrophy
| asymmetric growth of 1 or more body parts
148
complex vs simple hemihyperplasua
complex entire side of body
| simple single limb
149
hemihyperplasia more common isolated or syndromic
which syndromes (x6)
isolated more common
syndromes: NF, McCune-Albright, Maffucci, segmental odontomaxillary dysplasia, Beckwith-Wiedemann, Proteus
150
skin and viscera in hemihyperplasia
skin: increased pigmentation, hypertrichosis, telangiectasias, nevus flammeus
increased prevalence of abdominal tumors: Wilms, adrenal Ca, hepatoblastoma
151
hemifacial hyperplasia
hemihyperplasia of just on side of face
| premature eruption
152
progressive hemifacial atrophy aka, manifests, triggers
aka Parry-Romberg syndrome
atrophy of one side of face
pigmentation, enophthalmos, delayed eruption of teeth
assoc w trauma and Lyme dz (Borrelia infection)
153
progressive hemifacial atrophy progression and ddx
starts on skin )pigmentation), then nerves and bones
| related to localized(linear) scleroderma - also has coupe de sabre scar on forehead
154
coup de sabre
localized scleroderma and progressive hemifacial atrophy
155
atrophy of one side of face
| pigmentation, enophthalmos, delayed eruption of teeth
progressive hemifacial atrophy
156
segmental odontomaxillary dysplasia aka and oral manifestations
hemimaxillofacial dysplasia
painless unilateral enlargement of mx + fibrous hyperplasia of overlying gingiva
absence of 1+ mx PM, hypoplastic primary teeth
157
segmental odontomaxillary dysplasia xray
vertically oriented and thickened bony trabeculae (granular appearance)
158
hypertrichosis and rough erythema
becker nevus --> segmental odontomaxillary dysplasia
159
absence of 1+ mx PM, hypoplastic primary teeth, vertical trabeculae
segmental odontomaxillary dysplasia
160
histo segmental odontomaxillary dysplasia
soft tissue - fibrosis
| bone -- irregular trabeculae w woven appearance and reversal lines
161
crouzon syndrome aka and genetics
craniofacial dysostosis
FGFR2 mutation
related to increased paternal age
162
crouzon skull
craniosynostosis - premature closing of cranial sutures
brachy, scapho, trigonocephaly or clover lead (Kleeblattschadel deformity(
xray: beaten metal/digital markings
163
crouzon face look
midfacial hypoplasia, ocular proprosis, teeth crowding, midline maxillary pseudocleft
visual and hearing loss
no mental retardation
164
midline maxillary pseudocleft
crouzon and paert (hyaluronic acid deposition)
165
enophthalmos
progressive hemifacial atrophy
166
apert syndrome aka and genetics
acrocephalosyndactyly
| AD, FGFR2, increased paternal age
167
craniofacial dysostosis aka
crouzon
168
acrocephalosyndactyly aka
apert syndrome
169
FGFR2 mutation
crouzon and apert
170
increased paternal age and developmental abnormalities
crouzon, apert, treacher collin
171
apert skull
acrobrachycephaly (tower skull), tall forehead, clover leaf skull, visual loss
beaten metal on xray
172
clover leaf skull
crouzon and apert
| kleeblattschadel
173
apert vs other craniosynostoses
syndactyly of hands and feet in apert
174
apert oral
open mouth appearance, trapezoid lips,
cleft soft palate/bifid ucula
lateral hard palate swelling with pseudocleft (hyaluronic acid deposition)
shovel incisors
175
shovel incisors and trapezoid lips
apert
176
beaten metal
copper - hypophosphatasia
| metal - apert and crouzon
177
treacher collins aka and genetics
mandibulofacial dysostosis
TCOF1 (treacle) on chr 5
increased paternal age
178
TCOF1 aka, chromosome, result
treacle
5
treacher collins syndrome
179
treacle aka, chromosome, result
TCOF1
5
treacher collins syndrome
180
treacher collins face
hypoplastic zygoma, narrow face, depressed cheeks, downward palpebral fissure
coloboma - notch in outer lower eyelid )no eyelashes medial to it
181
hypoplastic zygoma, narrow face, depressed cheeks, downward palpebral fissure
treacher collins
182
notch in outer lower eyelid with no eyelashes medial to it
coloboma
eg treacher collins
goltz-gorlin syndrome - coloboma of iris
183
coloboma of iris
goltz-gorlin syndrome -
184
development of central face when
4 wks
185
development of upper lip when
6-7 wks
186
primary palate merger of what
medial nasal processes --> premaxilla (the 4 incisors)
187
premaxilla where and origin
4 incisors - premaxilla
| from medial nasal processes, primary palte
188
secondary palate origin and result
90% of hard and soft palate
| from maxillary process of 1st branchial arch
189
cleft lip why
defect in fusion of medial nasal process + maxillary process
190
cleft palate why
failure of the palatal shelves to fuse
191
minimal cleft palate
bifid uvula
192
CL+CP - CL only - CP only %%
CL + CP = 45 %
CPO = 30%
Isolated CL=25%
193
lateral facial cleft why
| 4 syndromes
failure of fusion between maxillary + mandibular process (extends to ear)
```
Usually occurs with other syndromes
Mandibular dysostosis
Oculo-auriculo-vertebral spectrum (hemifacial macrosomia)
Nager acrofacial dysostosis
Amniotic rupture sequence
```
194
failure of fusion between maxillary + mandibular process
lateral facial cleft
195
oblique facial cleft why
Failure of fusion between lateral nasal + maxillary process
extends from lip to eye
nearly always associated with CP
196
Failure of fusion between lateral nasal + maxillary process
oblique facial cleft
extends from lip to eye
nearly always associated with CP
197
median cleft of upper lip why and syndromes
failure of fusion of the medial nasal process. Associated with a number of syndromes
oral-facial-digital syndrome
Ellis Van Crevald Syndrome
Holoprosencephaly
198
commissural lip pits
origin
location
genetics
congenital but develop later in life / corner of mouth / AD / failure of max
+ mandibular process to fuse
199
pierre robin sequence triad and syndromes
CP / mandibular micrognathia / glossoptosis (airway obstruction from posterior
displacement of tongue
Associated with Stickler Syndrome
Associated with velocardiofacial syndrome = DiGeorge Syndrome ( Catch 22)
200
digeorge components
```
CATCH 22
Cardiac defect
Abnormal facial features
Thymus deficiency
Cleft palate
Hypocalcemia
#22q11.2
```
201
Thymus deficiency
| Cleft palate
digeorge
202
other name for digeorge
velocardiofacial syndrome
203
CATCH 22
digeorge
204
paramedian lip pits aka, inheritance, origin, and syndromes
AD
assoc w orofacial clefts
invagination of lower lip / lateral sulci of mandibular Arch
van der woude, kabuki, popliteal pterygium
205
most common cause of syndromic clefting
van der woude
206
Oro-mandibular-limb hypogenesis syndrome three key components
Hypodactylia: absence of digits
Hypoamelia: absence of limbs
Microglossia
207
lateral soft palatal fistula preferred location
bilateral>unilateral
| anterior tonsillar pillae
208
melkersson rosenthal components
fissured tongue
facial paralysis
orofacial granulomatosis
209
coronoid hyperplasia sex and laterality
M>F
bi> uni
impinges on zygoma and restricts opening
210
syndromes w condylar hypoplasia
Mandibulofacial dysostosis ( Treacher Collins syndrome)
Oculoauriculovertebral syndrome (Goldenhar Syndrome)
Hemifacial microsomia
211
treacher collins embryonic origin
inheritance
genetics
face look
```
1st and 2nd branchial arches
AD/ 5q32 (TCOF1)
Hypoplasic mandible
Coloboma
Ear deformity
Cleft palate
SG hypoplasia
```
212
Pain when turning head, otalgia, headache, dizziness, syncope, dysphagia, dysphonia eval for what
eagle
213
non-tonsillectomy eagle
carotid artery syndrome
214
soft counterpart of nasopalatine
cyst of incisive papilla
215
epidermoid cysts syndromc
gardner
216
dermoid cyst look and approach depending on location
above geniohyoid = sublingual swelling; likes midline FOM -- intraoral
below geniohyoid = submental swelling double chin -- extraoral
217
dermoid cyst on palpation
doughy; retains pitting after pressure
218
pilar cyst aka and ddx from epidermoid
Trichilemmal cyst ; Isthmus-Catagen cyst
| no granular layer and packed keratin/abrupt from big keratinocytes into keratin
219
thyroglossal duct cyst
| when develop and where can be
development at 3 wks in utero
anywhere from tongue to suprasternal notch
60-80% below hyoid bone
220
age for thyroglossal duct cyst
<20 for 50%
221
thyroglossal duct cyst embryo
tuberculum impar + copula of tongue = foramen cecum
222
risks of thyroglossal
10% recurrence
| 1-2 % carcinoma
223
surgical procedure for thyroglossal duct cyst
sistrunk (w hyoid)
224
asymmetrical growth of one or more body parts
hemihyperplasia
225
complex vs simple hemihyperplasia
complex - entire side of body
| simple - one limb
226
skin in hemihyperplasia
thick, increased pigmentation, hypertrichosis, telangiectasia, nevus flammeus
227
malignancy in hemihyperplasia
abdominal tumors
| Wilms, adrenal cortical carcinoma, hepatoblastoma
228
hemihyperplasia but only face
hemifacial hyperplasia
229
progressive hemifacial atrophy aka, sex, duration
parry romberg and romberg; F>M, slows down after 20 years
230
face and mouth and parry romberg
```
similar features to scleroderma
coup de sabre a sharp line of demarcation resembling a large linear scar
local alopecia
enophthalmos
brown pigmentation
trigeminal neuralgia / epilepsy/ headache
delayed eruption
atrophy of tongue
posterior open bite
```
231
hemihyperplasia sex and side
F, right
232
segmental odontomaxillary dysplasia aka and sex
hemimaxillofacial dysplasia, M
233
mouth in segmental odontomaxillary dysplasia
unilateral enlargement, missing PMs, gingival hyperplasia
234
skin in segmental odontomaxillary dysplasia
becker nevus - ipsilateral hypertrichosis and hyperpigmentation of shoulder and trunk
235
hypertrichosis and hyperpigmentation of shoulder and trunk
becker nevus
| segmental odontomaxillary dysplasia
236
classic ddx for segmental odontomaxillary dysplasis
fibrous dysplasia, hemifacial dysplasia
237
crouzon syndrome aka, genetics, mechanism
craniofacial dysostosis
| Early closure of sutures / 10q26 (FGFR-2)
238
4 heads of crouzon
Brachycephaly: short head
Scaphocephaly: boat shaped
Trigoncephaly: triangle shaped
Kleeblasttshadel deformity (clover leaf )
239
mouth of crouzon
Underdevelopment of maxilla
Crowding of teeth
Congenital missing teeth
240
head and face of crouzon
| xray?
Ocular proptosis
Blindness/ hearing loss
Radiograph: Beaten metal
241
beaten metal skull
Apert
Crouzon
Hypophosphatasia
242
apert syndrome aka, genetics
Acrocephalosyndactyly
| 10q26 (FGFR-2)
243
2 heads of apert
Acrobrachycephaly: tower head
| Kleeblasttshadel deformity (clover leaf
244
mouth of apert
```
Trapezoid lips
Missin lateral or PM
Mouth breather
CP-bifid uvula
V-shaped maxilla
Class III malocclusion
Open bite
Post.crossbie
Pseudocleft due To GAG
```
245
pierre robin sequence
| components and syndromes
```
Cleft palate (CP)
Mand.micrognathia
Glossoptosis causing airway obstruction
Isolated vs with syndromes
Stickler syndrome
Velocardiofacial
```
246
stickler syndrome aka and clinical look
AKA:Hereditary progressive
artho-ophthalmopathy
```
Facial abnormalities
Flat cheeks
Flat nasal bridge
Small jaws
Pronounced lips
CP
Ocular (myopia)
Hearing loss
Joint problems
```
247
popliteal pterygium syndrome inheritance/gene and clinical
```
AD, IRF6?
Skin: webs impair mobility
Face: CL /CP
Hypodontia
Genitals
```
248
paramedian lip pits and genital troubles
popliteal pterygium
249
paramedian lip pits and skeletal problems
kabuki
250
kabuki inheritance and clinial
AD
Heart defect
```
Eversion of lower lat. Eyelids
Large ears, hearing prob
CL/CP
Hypodontia
Joint laxity
Skeletal problems
```
251
van der woude inheritance/genetics and clinical
AD; IRF6 on chr 1q32-q41
Most common form of syndromic clefting
CP/CL + paramedian lip pits
Hypodontia
252
ascher syndrome components
Double lip; upper> lower
Nontoxic thyroid goiter
Brepharochalasis (edema of upper eyelids)
253
Oro-mandibular-limb
| hypogenesis syndrome components
```
Hypodactylia
Hypomelia
CP
Hypoplasia of mand
Low incisors missing
MICROGLOSSIA
```
254
beckwith wiedemann inheritance/genetics and components
AD; 11p15
```
MACROGLOSSIA
Omphalocele
Neonatal hypoglycemia
Gigantism
Visceromegaly
HIGH RISK FOR
1- Wilms tumor
2- Neuroblastoma
3- Rhabdomyosarcoma
4- Hepatoblastoma
```
255
```
eagle syndrome:
why classic?
population
manifestation
nerves affected
mechanic cause
```
classic after tonsillectomy
carotid artery not
```
Adults
Pain during swallowing
Pain when turning head
Cranial nerves V, VII, IX, X
Elongation of stylohyoid process and/or
Mineralization of Stylohyoid ligament
```
256
Pain during swallowing
| Pain when turning head
suspect eagle
257
etiology of progressive hemifacial atrophy
Maybe due to
Lyme disease
(Borrelia) or
Trauma
258
progressive hemifacial atrophy aka and similar to what
Progressive facial hemiatrophy
Romberg Syndrome
Parry Romberg Syndrome
Similar to loc. scleroderma (coup de sabre)
259
population/face of hemifacial atrophy
```
F > M )starts early)
Enophthalmos / Local alopecia
Atrophy of lip and tongue
Post. open bite
Mouth deviated to affected side
```
260
segmental odontomaxillary dysplasia ddx
fibrous dysplasia and hemifacial hyperplasia
261
mouth and skin in segmental odontomaxillary dysplasia
```
Uni. Enlargement of maxilla
Fibrous hyperplasia
Some teeth missing
Primary teeth hypolastic
Sinus smaller on affected side
Becker’s Nevus
```
262
FGFR2 location, inheritance, and syndromes
Chr # 10q26
AD
crouzon and apert
263
kleeblattschadel deformity
severe crouzon and apert (cloverleaf skull)
264
skull of crouzon vs apert
both when extreme cloverleaf
both beaten metal on xray
crouzon: trigono, scapho, brachy
apert: acrobrachy (tower)
265
mouth of apert
```
CP + pseudocleft
Bifid uvula
V shaped arch
Class 3
Trapezoid lips; mouth breathing
```
266
intellectual disability apert vs crouzon
more severe in apert?
267
apert vs crouzon
syndactyly in apert: 2-3-4 hands and feet
268
treacher collins aka (2)
Mandibulofacial Dysostosis
| Franceschetti-Zwahlen-Klein
269
treacher collins genetics and inheritance
AD
TCOF1
5q32-q33.1
270
treacher collins what's defective
face and mouth
Defect in 1st + 2nd brachial arch
Hypoplastic zygoma causing depressed cheek
1/3 CP
Hypoplastic SG/ Pharynx/ Condyle /Coronoid
Coloboma: Notch along outside of eye (lower lid)
Mandible underdeveloped
271
Notch along outside of eye (lower lid)
coloboma in treacher collins
272
hypoplastic zygoma
treacher collins
273
defect in 1-2 branchial arch
treacher collins
274
digeorge what's defective
3-4 pharyngeal pouches
275
3-4 pharyngeal pouches
digeorge
